V194G (p.Val194Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
V194G (p.Val194Gly) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
V194G (p.Val194Gly) variant details
- p.Val194Gly
- rs876658962
- ClinGen CA10578210
- ClinVar RCV000215196
- ClinVar RCV001857772
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.85
- MetaSVM 0.88
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)